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Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, Rackham OJ, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJ, Ko NS, Sim D, Chan LL, Chin CW, Mazzarotto F, Barton PJ, Kreuchwig F, de Kleijn DP, Totman T, Biffi C, Tee N, Rueckert D, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O'Regan D, Ware JS, Hubner N, Cook SA. Schafer S, et al. Among authors: seidman jg, seidman ce. Nat Genet. 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719. Epub 2016 Nov 21. Nat Genet. 2017. PMID: 27869827 Free PMC article.
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
Watkins H, Thierfelder L, Hwang DS, McKenna W, Seidman JG, Seidman CE. Watkins H, et al. Among authors: seidman jg, seidman ce. J Clin Invest. 1992 Nov;90(5):1666-71. doi: 10.1172/JCI116038. J Clin Invest. 1992. PMID: 1430197 Free PMC article.
512 results